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Acta Ophthalmol. 2018 Feb;96(1):e87-e91. doi: 10.1111/aos.13484. Epub 2017 Jul 5.

Analysis of KERA in four families with cornea plana identifies two novel mutations.

Author information

1
Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Praha, Czech Republic.
2
Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium.
3
Department of Ophthalmology, Queen Fabiola Children's University Hospital, Brussels, Belgium.
4
Center for Medical Genetics, Ghent University Hospital and Ghent University, Ghent, Belgium.
5
Division of Ophthalmology and Center for Cellular and Molecular Therapeutics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
6
Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.

Abstract

PURPOSE:

To identify the molecular genetic cause in four families of various ethnic backgrounds with cornea plana.

METHODS:

Detailed ophthalmological examination and direct sequencing of the KERA coding region in five patients of Czech and Turkish origin and their available family members.

RESULTS:

Compound heterozygosity for a novel missense mutation c.209C>T; p.(Pro70Leu) and a novel splice site mutation c.887-1G>A in KERA were detected in two affected siblings of Czech origin. In silico analysis supported the pathogenicity of both variants. The second proband of Czech origin harboured c.835C>T; p.(Arg279*) in a homozygous state. Homozygous mutations c.740A>G; p.(Asn247Ser) and c.674C>T; p.(Ile225Thr) were identified in the Turkish probands, both born out of consanguineous marriages. Observed ocular phenotypes were typical of cornea plana with the exception of one Czech patient who also had marked thinning and protrusion in the superior part of the left cornea (mean keratometry 47.2 D). No corneal endothelial cell pathology was found by specular microscopy in seven eyes, in three eyes visualization of the posterior corneal surface was unsuccessful.

CONCLUSION:

KERA mutation c.740A>G has been identified to date in three different populations, which makes it the most frequently occurring mutation in patients with cornea plana. Marked corneal thinning and ectasia are a very rare finding in this disorder and longitudinal follow-up needs to be performed to determine its potential progressive nature.

KEYWORDS:

KERA; cornea plana; novel mutation; phenotype

PMID:
28677912
DOI:
10.1111/aos.13484
[Indexed for MEDLINE]

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